Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.

@article{Zweier2006AtypicalZM,
  title={Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.},
  author={Christiane Zweier and Denise Horn and Cornelia Kraus and Anita Rauch},
  journal={American journal of medical genetics. Part A},
  year={2006},
  volume={140 8},
  pages={869-72}
}
Mowat-Wilson syndrome is a recently delineated severe mental retardation, multiple congenital anomalies syndrome caused by dominant nonsense or frameshift mutations, deletions or translocations of the zinc finger homeobox 1B gene (ZFHX1B). We report on a patient with exceptional mild phenotype caused by a novel and unusual splice mutation in the 5'UTR. The aberrant transcript leads to usage of an alternative upstream start codon. The resulting protein differs from the wild-type only in the… CONTINUE READING